Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.41414051C>A | CA507557455 | BCKDHA | c.378C>A (p.Gly126=) c.312C>A (p.Gly104=) n.504C>A c.480C>A (p.Gly160=) c.185C>A c.291C>A (p.Gly97=) | |
19 | g.41414051C>G | CA507557459 | BCKDHA | c.378C>G (p.Gly126=) c.312C>G (p.Gly104=) n.504C>G c.480C>G (p.Gly160=) c.185C>G c.291C>G (p.Gly97=) | |
19 | g.41414051C>T | CA507557461 | BCKDHA | c.378C>T (p.Gly126=) c.312C>T (p.Gly104=) n.504C>T c.480C>T (p.Gly160=) c.185C>T c.291C>T (p.Gly97=) | |
19 | g.41414052C>A | CA507557467 | BCKDHA | c.379C>A (p.Arg127=) c.313C>A (p.Arg105=) n.505C>A c.481C>A (p.Arg161=) c.186C>A c.292C>A (p.Arg98=) | |
19 | g.41414052C= | CA2336455315 | BCKDHA | c.379C= (p.Arg127=) c.313C= (p.Arg105=) n.505C= c.481C= (p.Arg161=) c.186C= c.292C= (p.Arg98=) | |
19 | g.41414052C>G | CA406007593 | BCKDHA | c.379C>G (p.Arg127Gly) c.313C>G (p.Arg105Gly) n.505C>G c.481C>G (p.Arg161Gly) c.186C>G c.292C>G (p.Arg98Gly) | |
19 | g.41414052C>T | CA9461126 | BCKDHA | c.379C>T (p.Arg127Trp) c.313C>T (p.Arg105Trp) n.505C>T c.481C>T (p.Arg161Trp) c.186C>T c.292C>T (p.Arg98Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41414053G>A | CA9461127 | BCKDHA | c.380G>A (p.Arg127Gln) c.314G>A (p.Arg105Gln) n.506G>A c.482G>A (p.Arg161Gln) c.187G>A c.293G>A (p.Arg98Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41414053G>C | CA406007600 | BCKDHA | c.380G>C (p.Arg127Pro) c.314G>C (p.Arg105Pro) n.506G>C c.482G>C (p.Arg161Pro) c.187G>C c.293G>C (p.Arg98Pro) | |
19 | g.41414053G= | CA2336455316 | BCKDHA | c.380G= (p.Arg127=) c.314G= (p.Arg105=) n.506G= c.482G= (p.Arg161=) c.187G= c.293G= (p.Arg98=) | |
19 | g.41414053G>T | CA406007603 | BCKDHA | c.380G>T (p.Arg127Leu) c.314G>T (p.Arg105Leu) n.506G>T c.482G>T (p.Arg161Leu) c.187G>T c.293G>T (p.Arg98Leu) | |
19 | g.41414054G>A | CA507557478 | BCKDHA | c.381G>A (p.Arg127=) c.315G>A (p.Arg105=) n.507G>A c.483G>A (p.Arg161=) c.188G>A c.294G>A (p.Arg98=) | |
19 | g.41414054G>C | CA507557481 | BCKDHA | c.381G>C (p.Arg127=) c.315G>C (p.Arg105=) n.507G>C c.483G>C (p.Arg161=) c.188G>C c.294G>C (p.Arg98=) | |
19 | g.41414054G>T | CA507557482 | BCKDHA | c.381G>T (p.Arg127=) c.315G>T (p.Arg105=) n.507G>T c.483G>T (p.Arg161=) c.188G>T c.294G>T (p.Arg98=) | |
19 | g.41414055A= | CA2336455317 | BCKDHA | c.382A= (p.Ile128=) c.316A= (p.Ile106=) n.508A= c.484A= (p.Ile162=) c.189A= c.295A= (p.Ile99=) | |
19 | g.41414055A>C | CA406007609 | BCKDHA | c.382A>C (p.Ile128Leu) c.316A>C (p.Ile106Leu) n.508A>C c.484A>C (p.Ile162Leu) c.189A>C c.295A>C (p.Ile99Leu) | |
19 | g.41414055A>G | CA9461128 | BCKDHA | c.382A>G (p.Ile128Val) c.316A>G (p.Ile106Val) n.508A>G c.484A>G (p.Ile162Val) c.189A>G c.295A>G (p.Ile99Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41414055A>T | CA406007613 | BCKDHA | c.382A>T (p.Ile128Phe) c.316A>T (p.Ile106Phe) n.508A>T c.484A>T (p.Ile162Phe) c.189A>T c.295A>T (p.Ile99Phe) | |
19 | g.41414056T>A | CA406007621 | BCKDHA | c.383T>A (p.Ile128Asn) c.317T>A (p.Ile106Asn) n.509T>A c.485T>A (p.Ile162Asn) c.190T>A c.296T>A (p.Ile99Asn) | |
19 | g.41414056T>C | CA406007618 | BCKDHA | c.383T>C (p.Ile128Thr) c.317T>C (p.Ile106Thr) n.509T>C c.485T>C (p.Ile162Thr) c.190T>C c.296T>C (p.Ile99Thr) | |
19 | g.41414056T>G | CA406007616 | BCKDHA | c.383T>G (p.Ile128Ser) c.317T>G (p.Ile106Ser) n.509T>G c.485T>G (p.Ile162Ser) c.190T>G c.296T>G (p.Ile99Ser) | |
19 | g.41414057C>A | CA507557516 | BCKDHA | c.384C>A (p.Ile128=) c.318C>A (p.Ile106=) n.510C>A c.486C>A (p.Ile162=) c.191C>A c.297C>A (p.Ile99=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41414057C= | CA2336455318 | BCKDHA | c.384C= (p.Ile128=) c.318C= (p.Ile106=) n.510C= c.486C= (p.Ile162=) c.191C= c.297C= (p.Ile99=) | |
19 | g.41414057C>G | CA406007626 | BCKDHA | c.384C>G (p.Ile128Met) c.318C>G (p.Ile106Met) n.510C>G c.486C>G (p.Ile162Met) c.191C>G c.297C>G (p.Ile99Met) | |
19 | g.41414057C>T | CA507557511 | BCKDHA | c.384C>T (p.Ile128=) c.318C>T (p.Ile106=) n.510C>T c.486C>T (p.Ile162=) c.191C>T c.297C>T (p.Ile99=) | dbSNP |
19 | g.41414058T>A | CA406007637 | BCKDHA | c.385T>A (p.Ser129Thr) c.319T>A (p.Ser107Thr) n.511T>A c.487T>A (p.Ser163Thr) c.192T>A c.298T>A (p.Ser100Thr) | gnomAD v4 |
19 | g.41414058T>C | CA406007630 | BCKDHA | c.385T>C (p.Ser129Pro) c.319T>C (p.Ser107Pro) n.511T>C c.487T>C (p.Ser163Pro) c.192T>C c.298T>C (p.Ser100Pro) | |
19 | g.41414058T>G | CA406007633 | BCKDHA | c.385T>G (p.Ser129Ala) c.319T>G (p.Ser107Ala) n.511T>G c.487T>G (p.Ser163Ala) c.192T>G c.298T>G (p.Ser100Ala) | |
19 | g.41414059C>A | CA406007641 | BCKDHA | c.386C>A (p.Ser129Tyr) c.320C>A (p.Ser107Tyr) n.512C>A c.488C>A (p.Ser163Tyr) c.193C>A c.299C>A (p.Ser100Tyr) | |
19 | g.41414059C= | CA2336455319 | BCKDHA | c.386C= (p.Ser129=) c.320C= (p.Ser107=) n.512C= c.488C= (p.Ser163=) c.193C= c.299C= (p.Ser100=) | |
19 | g.41414059C>G | CA406007643 | BCKDHA | c.386C>G (p.Ser129Cys) c.320C>G (p.Ser107Cys) n.512C>G c.488C>G (p.Ser163Cys) c.193C>G c.299C>G (p.Ser100Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41414059C>T | CA406007648 | BCKDHA | c.386C>T (p.Ser129Phe) c.320C>T (p.Ser107Phe) n.512C>T c.488C>T (p.Ser163Phe) c.193C>T c.299C>T (p.Ser100Phe) | |
19 | g.41414060C>A | CA507557539 | BCKDHA | c.387C>A (p.Ser129=) c.321C>A (p.Ser107=) n.513C>A c.489C>A (p.Ser163=) c.194C>A c.300C>A (p.Ser100=) | |
19 | g.41414060C>G | CA507557541 | BCKDHA | c.387C>G (p.Ser129=) c.321C>G (p.Ser107=) n.513C>G c.489C>G (p.Ser163=) c.194C>G c.300C>G (p.Ser100=) | |
19 | g.41414060C>T | CA507557543 | BCKDHA | c.387C>T (p.Ser129=) c.321C>T (p.Ser107=) n.513C>T c.489C>T (p.Ser163=) c.194C>T c.300C>T (p.Ser100=) | ClinVar COSMIC |
19 | g.41414062_41414064del | CA2576793787 | BCKDHA | c.389_391del (p.Phe130del) c.323_325del (p.Phe108del) n.515_517del c.491_493del (p.Phe164del) c.196_198del c.302_304del (p.Phe101del) | |
19 | g.41414061T>A | CA406007652 | BCKDHA | c.388T>A (p.Phe130Ile) c.322T>A (p.Phe108Ile) n.514T>A c.490T>A (p.Phe164Ile) c.195T>A c.301T>A (p.Phe101Ile) | |
19 | g.41414061T>C | CA406007655 | BCKDHA | c.388T>C (p.Phe130Leu) c.322T>C (p.Phe108Leu) n.514T>C c.490T>C (p.Phe164Leu) c.195T>C c.301T>C (p.Phe101Leu) | |
19 | g.41414061T>G | CA406007658 | BCKDHA | c.388T>G (p.Phe130Val) c.322T>G (p.Phe108Val) n.514T>G c.490T>G (p.Phe164Val) c.195T>G c.301T>G (p.Phe101Val) | |
19 | g.41414062del | CA2576793788 | BCKDHA | c.389del (p.Phe130SerfsTer3) c.323del (p.Phe108SerfsTer3) n.515del c.491del (p.Phe164SerfsTer3) c.196del c.302del (p.Phe101SerfsTer3) | gnomAD v4 |
19 | g.41414062T>A | CA406007663 | BCKDHA | c.389T>A (p.Phe130Tyr) c.323T>A (p.Phe108Tyr) n.515T>A c.491T>A (p.Phe164Tyr) c.196T>A c.302T>A (p.Phe101Tyr) | |
19 | g.41414062T>C | CA406007665 | BCKDHA | c.389T>C (p.Phe130Ser) c.323T>C (p.Phe108Ser) n.515T>C c.491T>C (p.Phe164Ser) c.196T>C c.302T>C (p.Phe101Ser) | |
19 | g.41414062T>G | CA406007669 | BCKDHA | c.389T>G (p.Phe130Cys) c.323T>G (p.Phe108Cys) n.515T>G c.491T>G (p.Phe164Cys) c.196T>G c.302T>G (p.Phe101Cys) | |
19 | g.41414063C>A | CA406007671 | BCKDHA | c.390C>A (p.Phe130Leu) c.324C>A (p.Phe108Leu) n.516C>A c.492C>A (p.Phe164Leu) c.197C>A c.303C>A (p.Phe101Leu) | |
19 | g.41414063C>G | CA406007674 | BCKDHA | c.390C>G (p.Phe130Leu) c.324C>G (p.Phe108Leu) n.516C>G c.492C>G (p.Phe164Leu) c.197C>G c.303C>G (p.Phe101Leu) | gnomAD v4 COSMIC |
19 | g.41414063C>T | CA507557562 | BCKDHA | c.390C>T (p.Phe130=) c.324C>T (p.Phe108=) n.516C>T c.492C>T (p.Phe164=) c.197C>T c.303C>T (p.Phe101=) | |
19 | g.41414064T>A | CA406007683 | BCKDHA | c.391T>A (p.Tyr131Asn) c.325T>A (p.Tyr109Asn) n.517T>A c.493T>A (p.Tyr165Asn) c.198T>A c.304T>A (p.Tyr102Asn) | |
19 | g.41414064T>C | CA406007677 | BCKDHA | c.391T>C (p.Tyr131His) c.325T>C (p.Tyr109His) n.517T>C c.493T>C (p.Tyr165His) c.198T>C c.304T>C (p.Tyr102His) | |
19 | g.41414064T>G | CA406007680 | BCKDHA | c.391T>G (p.Tyr131Asp) c.325T>G (p.Tyr109Asp) n.517T>G c.493T>G (p.Tyr165Asp) c.198T>G c.304T>G (p.Tyr102Asp) | |
19 | g.41414065A>C | CA406007684 | BCKDHA | c.392A>C (p.Tyr131Ser) c.326A>C (p.Tyr109Ser) n.518A>C c.494A>C (p.Tyr165Ser) c.199A>C c.305A>C (p.Tyr102Ser) | gnomAD v4 |
19 | g.41414065A>G | CA406007687 | BCKDHA | c.392A>G (p.Tyr131Cys) c.326A>G (p.Tyr109Cys) n.518A>G c.494A>G (p.Tyr165Cys) c.199A>G c.305A>G (p.Tyr102Cys) | |
19 | g.41414065A>T | CA406007690 | BCKDHA | c.392A>T (p.Tyr131Phe) c.326A>T (p.Tyr109Phe) n.518A>T c.494A>T (p.Tyr165Phe) c.199A>T c.305A>T (p.Tyr102Phe) | |
19 | g.41414066C>A | CA406007693 | BCKDHA | c.393C>A (p.Tyr131Ter) c.327C>A (p.Tyr109Ter) n.519C>A c.495C>A (p.Tyr165Ter) c.200C>A c.306C>A (p.Tyr102Ter) | |
19 | g.41414066C= | CA2336455320 | BCKDHA | c.393C= (p.Tyr131=) c.327C= (p.Tyr109=) n.519C= c.495C= (p.Tyr165=) c.200C= c.306C= (p.Tyr102=) | |
19 | g.41414066C>G | CA406007697 | BCKDHA | c.393C>G (p.Tyr131Ter) c.327C>G (p.Tyr109Ter) n.519C>G c.495C>G (p.Tyr165Ter) c.200C>G c.306C>G (p.Tyr102Ter) | dbSNP |
19 | g.41414066C>T | CA507557580 | BCKDHA | c.393C>T (p.Tyr131=) c.327C>T (p.Tyr109=) n.519C>T c.495C>T (p.Tyr165=) c.200C>T c.306C>T (p.Tyr102=) | gnomAD v4 |
19 | g.41414067A= | CA2336455321 | BCKDHA | c.394A= (p.Met132=) c.328A= (p.Met110=) n.520A= c.496A= (p.Met166=) c.201A= c.307A= (p.Met103=) | |
19 | g.41414067A>C | CA406007701 | BCKDHA | c.394A>C (p.Met132Leu) c.328A>C (p.Met110Leu) n.520A>C c.496A>C (p.Met166Leu) c.201A>C c.307A>C (p.Met103Leu) | gnomAD v4 |
19 | g.41414067A>G | CA406007704 | BCKDHA | c.394A>G (p.Met132Val) c.328A>G (p.Met110Val) n.520A>G c.496A>G (p.Met166Val) c.201A>G c.307A>G (p.Met103Val) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41414067A>T | CA406007707 | BCKDHA | c.394A>T (p.Met132Leu) c.328A>T (p.Met110Leu) n.520A>T c.496A>T (p.Met166Leu) c.201A>T c.307A>T (p.Met103Leu) | |
19 | g.41414068T>A | CA406007710 | BCKDHA | c.395T>A (p.Met132Lys) c.329T>A (p.Met110Lys) n.521T>A c.497T>A (p.Met166Lys) c.202T>A c.308T>A (p.Met103Lys) | |
19 | g.41414068T>C | CA406007712 | BCKDHA | c.395T>C (p.Met132Thr) c.329T>C (p.Met110Thr) n.521T>C c.497T>C (p.Met166Thr) c.202T>C c.308T>C (p.Met103Thr) | dbSNP gnomAD v4 |
19 | g.41414068T>G | CA406007715 | BCKDHA | c.395T>G (p.Met132Arg) c.329T>G (p.Met110Arg) n.521T>G c.497T>G (p.Met166Arg) c.202T>G c.308T>G (p.Met103Arg) | |
19 | g.41414068T= | CA2336455322 | BCKDHA | c.395T= (p.Met132=) c.329T= (p.Met110=) n.521T= c.497T= (p.Met166=) c.202T= c.308T= (p.Met103=) | |
19 | g.41414069G>A | CA406007725 | BCKDHA | c.396G>A (p.Met132Ile) c.330G>A (p.Met110Ile) n.522G>A c.498G>A (p.Met166Ile) c.203G>A c.309G>A (p.Met103Ile) | |
19 | g.41414069G>C | CA406007722 | BCKDHA | c.396G>C (p.Met132Ile) c.330G>C (p.Met110Ile) n.522G>C c.498G>C (p.Met166Ile) c.203G>C c.309G>C (p.Met103Ile) | |
19 | g.41414069G>T | CA406007719 | BCKDHA | c.396G>T (p.Met132Ile) c.330G>T (p.Met110Ile) n.522G>T c.498G>T (p.Met166Ile) c.203G>T c.309G>T (p.Met103Ile) | gnomAD v4 |
19 | g.41414070del | CA2695198205 | BCKDHA | c.397del (p.Thr133ProfsTer?) c.331del (p.Thr111ProfsTer?) n.523del c.499del (p.Thr167ProfsTer?) c.204del c.310del (p.Thr104ProfsTer?) | ClinVar |
19 | g.41414070A= | CA2336455323 | BCKDHA | c.397A= (p.Thr133=) c.331A= (p.Thr111=) n.523A= c.499A= (p.Thr167=) c.204A= c.310A= (p.Thr104=) | |
19 | g.41414070A>C | CA406007730 | BCKDHA | c.397A>C (p.Thr133Pro) c.331A>C (p.Thr111Pro) n.523A>C c.499A>C (p.Thr167Pro) c.204A>C c.310A>C (p.Thr104Pro) | |
19 | g.41414070A>G | CA9461129 | BCKDHA | c.397A>G (p.Thr133Ala) c.331A>G (p.Thr111Ala) n.523A>G c.499A>G (p.Thr167Ala) c.204A>G c.310A>G (p.Thr104Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41414070A>T | CA406007737 | BCKDHA | c.397A>T (p.Thr133Ser) c.331A>T (p.Thr111Ser) n.523A>T c.499A>T (p.Thr167Ser) c.204A>T c.310A>T (p.Thr104Ser) | gnomAD v4 |
19 | g.41414071C>A | CA406007741 | BCKDHA | c.398C>A (p.Thr133Asn) c.332C>A (p.Thr111Asn) n.524C>A c.500C>A (p.Thr167Asn) c.205C>A c.311C>A (p.Thr104Asn) | |
19 | g.41414071C>G | CA406007745 | BCKDHA | c.398C>G (p.Thr133Ser) c.332C>G (p.Thr111Ser) n.524C>G c.500C>G (p.Thr167Ser) c.205C>G c.311C>G (p.Thr104Ser) | |
19 | g.41414071C>T | CA406007748 | BCKDHA | c.398C>T (p.Thr133Ile) c.332C>T (p.Thr111Ile) n.524C>T c.500C>T (p.Thr167Ile) c.205C>T c.311C>T (p.Thr104Ile) | gnomAD v4 |
19 | g.41414071_41414072delinsCC | CA2336455324 | BCKDHA | c.398_399delinsCC (p.Thr133=) c.332_333delinsCC (p.Thr111=) n.524_525delinsCC c.500_501delinsCC (p.Thr167=) c.205_206delinsCC c.311_312delinsCC (p.Thr104=) | |
19 | g.41414072C>A | CA507557613 | BCKDHA | c.399C>A (p.Thr133=) c.333C>A (p.Thr111=) n.525C>A c.501C>A (p.Thr167=) c.206C>A c.312C>A (p.Thr104=) | |
19 | g.41414072C>G | CA507557616 | BCKDHA | c.399C>G (p.Thr133=) c.333C>G (p.Thr111=) n.525C>G c.501C>G (p.Thr167=) c.206C>G c.312C>G (p.Thr104=) | |
19 | g.41414072C>T | CA507557610 | BCKDHA | c.399C>T (p.Thr133=) c.333C>T (p.Thr111=) n.525C>T c.501C>T (p.Thr167=) c.206C>T c.312C>T (p.Thr104=) | |
19 | g.41414072delinsAA | CA16043981 | BCKDHA | c.399delinsAA (p.Asn134LysfsTer4) c.333delinsAA (p.Asn112LysfsTer4) n.525delinsAA c.501delinsAA (p.Asn168LysfsTer4) c.206delinsAA c.312delinsAA (p.Asn105LysfsTer4) | ClinVar dbSNP |
19 | g.41414073A>C | CA406007754 | BCKDHA | c.400A>C (p.Asn134His) c.334A>C (p.Asn112His) n.526A>C c.502A>C (p.Asn168His) c.207A>C c.313A>C (p.Asn105His) | |
19 | g.41414073A>G | CA406007757 | BCKDHA | c.400A>G (p.Asn134Asp) c.334A>G (p.Asn112Asp) n.526A>G c.502A>G (p.Asn168Asp) c.207A>G c.313A>G (p.Asn105Asp) | |
19 | g.41414073A>T | CA406007759 | BCKDHA | c.400A>T (p.Asn134Tyr) c.334A>T (p.Asn112Tyr) n.526A>T c.502A>T (p.Asn168Tyr) c.207A>T c.313A>T (p.Asn105Tyr) | |
19 | g.41414074A= | CA2336455325 | BCKDHA | c.401A= (p.Asn134=) c.335A= (p.Asn112=) n.527A= c.503A= (p.Asn168=) c.208A= c.314A= (p.Asn105=) | |
19 | g.41414074A>C | CA406007762 | BCKDHA | c.401A>C (p.Asn134Thr) c.335A>C (p.Asn112Thr) n.527A>C c.503A>C (p.Asn168Thr) c.208A>C c.314A>C (p.Asn105Thr) | |
19 | g.41414074A>G | CA406007766 | BCKDHA | c.401A>G (p.Asn134Ser) c.335A>G (p.Asn112Ser) n.527A>G c.503A>G (p.Asn168Ser) c.208A>G c.314A>G (p.Asn105Ser) | dbSNP |
19 | g.41414074A>T | CA406007769 | BCKDHA | c.401A>T (p.Asn134Ile) c.335A>T (p.Asn112Ile) n.527A>T c.503A>T (p.Asn168Ile) c.208A>T c.314A>T (p.Asn105Ile) | |
19 | g.41414074_41414075delinsAC | CA2336455326 | BCKDHA | c.401_402delinsAC (p.Asn134=) c.335_336delinsAC (p.Asn112=) n.527_528delinsAC c.503_504delinsAC (p.Asn168=) c.208_209delinsAC c.314_315delinsAC (p.Asn105=) | |
19 | g.41414075del | CA2336455327 | BCKDHA | c.402del (p.Tyr135MetfsTer?) c.336del (p.Tyr113MetfsTer?) n.528del c.504del (p.Tyr169MetfsTer?) c.209del c.315del (p.Tyr106MetfsTer?) | ClinVar dbSNP |
19 | g.41414075C>A | CA406007777 | BCKDHA | c.402C>A (p.Asn134Lys) c.336C>A (p.Asn112Lys) n.528C>A c.504C>A (p.Asn168Lys) c.209C>A c.315C>A (p.Asn105Lys) | |
19 | g.41414075C= | CA2336455328 | BCKDHA | c.402C= (p.Asn134=) c.336C= (p.Asn112=) n.528C= c.504C= (p.Asn168=) c.209C= c.315C= (p.Asn105=) | |
19 | g.41414075C>G | CA406007773 | BCKDHA | c.402C>G (p.Asn134Lys) c.336C>G (p.Asn112Lys) n.528C>G c.504C>G (p.Asn168Lys) c.209C>G c.315C>G (p.Asn105Lys) | |
19 | g.41414075C>T | CA9461130 | BCKDHA | c.402C>T (p.Asn134=) c.336C>T (p.Asn112=) n.528C>T c.504C>T (p.Asn168=) c.209C>T c.315C>T (p.Asn105=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41414076T>A | CA406007781 | BCKDHA | c.403T>A (p.Tyr135Asn) c.337T>A (p.Tyr113Asn) n.529T>A c.505T>A (p.Tyr169Asn) c.210T>A c.316T>A (p.Tyr106Asn) | |
19 | g.41414076T>C | CA406007783 | BCKDHA | c.403T>C (p.Tyr135His) c.337T>C (p.Tyr113His) n.529T>C c.505T>C (p.Tyr169His) c.210T>C c.316T>C (p.Tyr106His) | |
19 | g.41414076T>G | CA9461131 | BCKDHA | c.403T>G (p.Tyr135Asp) c.337T>G (p.Tyr113Asp) n.529T>G c.505T>G (p.Tyr169Asp) c.210T>G c.316T>G (p.Tyr106Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41414076T= | CA2336455329 | BCKDHA | c.403T= (p.Tyr135=) c.337T= (p.Tyr113=) n.529T= c.505T= (p.Tyr169=) c.210T= c.316T= (p.Tyr106=) | |
19 | g.41414077A= | CA2336455330 | BCKDHA | c.404A= (p.Tyr135=) c.338A= (p.Tyr113=) n.530A= c.506A= (p.Tyr169=) c.211A= c.317A= (p.Tyr106=) | |
19 | g.41414077A>C | CA406007791 | BCKDHA | c.404A>C (p.Tyr135Ser) c.338A>C (p.Tyr113Ser) n.530A>C c.506A>C (p.Tyr169Ser) c.211A>C c.317A>C (p.Tyr106Ser) | |
19 | g.41414077A>G | CA406007803 | BCKDHA | c.404A>G (p.Tyr135Cys) c.338A>G (p.Tyr113Cys) n.530A>G c.506A>G (p.Tyr169Cys) c.211A>G c.317A>G (p.Tyr106Cys) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.41414077A>T | CA406007807 | BCKDHA | c.404A>T (p.Tyr135Phe) c.338A>T (p.Tyr113Phe) n.530A>T c.506A>T (p.Tyr169Phe) c.211A>T c.317A>T (p.Tyr106Phe) | |
19 | g.41414078T>A | CA406007811 | BCKDHA | c.405T>A (p.Tyr135Ter) c.339T>A (p.Tyr113Ter) n.531T>A c.507T>A (p.Tyr169Ter) c.212T>A c.318T>A (p.Tyr106Ter) | ClinVar dbSNP |
19 | g.41414078T>C | CA507557639 | BCKDHA | c.405T>C (p.Tyr135=) c.339T>C (p.Tyr113=) n.531T>C c.507T>C (p.Tyr169=) c.212T>C c.318T>C (p.Tyr106=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41414078T>G | CA406007814 | BCKDHA | c.405T>G (p.Tyr135Ter) c.339T>G (p.Tyr113Ter) n.531T>G c.507T>G (p.Tyr169Ter) c.212T>G c.318T>G (p.Tyr106Ter) | |
19 | g.41414078T= | CA2336455331 | BCKDHA | c.405T= (p.Tyr135=) c.339T= (p.Tyr113=) n.531T= c.507T= (p.Tyr169=) c.212T= c.318T= (p.Tyr106=) | |
19 | g.41414078_41414086delinsTGGTGAGGA | CA2336455332 | BCKDHA | c.405_413delinsTGGTGAGGA (p.Tyr135=) c.339_347delinsTGGTGAGGA (p.Tyr113=) n.531_539delinsTGGTGAGGA c.507_515delinsTGGTGAGGA (p.Tyr169=) c.212_220delinsTGGTGAGGA c.318_326delinsTGGTGAGGA (p.Tyr106=) | |
19 | g.41414079G>A | CA406007819 | BCKDHA | c.406G>A (p.Gly136Ser) c.340G>A (p.Gly114Ser) n.532G>A c.508G>A (p.Gly170Ser) c.213G>A c.319G>A (p.Gly107Ser) | gnomAD v4 |
19 | g.41414079G>C | CA406007822 | BCKDHA | c.406G>C (p.Gly136Arg) c.340G>C (p.Gly114Arg) n.532G>C c.508G>C (p.Gly170Arg) c.213G>C c.319G>C (p.Gly107Arg) | |
19 | g.41414079G= | CA2336455333 | BCKDHA | c.406G= (p.Gly136=) c.340G= (p.Gly114=) n.532G= c.508G= (p.Gly170=) c.213G= c.319G= (p.Gly107=) | |
19 | g.41414079G>T | CA406007825 | BCKDHA | c.406G>T (p.Gly136Cys) c.340G>T (p.Gly114Cys) n.532G>T c.508G>T (p.Gly170Cys) c.213G>T c.319G>T (p.Gly107Cys) | |
19 | g.41414081_41414088del | CA995972917 | BCKDHA | c.408_415del (p.Glu137HisfsTer?) c.342_349del (p.Glu115HisfsTer?) n.534_541del c.510_517del (p.Glu171HisfsTer?) c.215_222del c.321_328del (p.Glu108HisfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.41414080G>A | CA406007833 | BCKDHA | c.407G>A (p.Gly136Asp) c.341G>A (p.Gly114Asp) n.533G>A c.509G>A (p.Gly170Asp) c.214G>A c.320G>A (p.Gly107Asp) | |
19 | g.41414080G>C | CA406007839 | BCKDHA | c.407G>C (p.Gly136Ala) c.341G>C (p.Gly114Ala) n.533G>C c.509G>C (p.Gly170Ala) c.214G>C c.320G>C (p.Gly107Ala) | |
19 | g.41414080G>T | CA406007831 | BCKDHA | c.407G>T (p.Gly136Val) c.341G>T (p.Gly114Val) n.533G>T c.509G>T (p.Gly170Val) c.214G>T c.320G>T (p.Gly107Val) | |
19 | g.41414083_41414099dup | CA9461132 | BCKDHA | c.410_426dup (p.Gly143ArgfsTer28) c.344_360dup (p.Gly121ArgfsTer28) n.536_552dup c.512_528dup (p.Gly177ArgfsTer28) c.217_233dup c.323_339dup (p.Gly114ArgfsTer28) | ClinVar dbSNP ExAC gnomAD v2 |
19 | g.41414081T>A | CA507557660 | BCKDHA | c.408T>A (p.Gly136=) c.342T>A (p.Gly114=) n.534T>A c.510T>A (p.Gly170=) c.215T>A c.321T>A (p.Gly107=) | dbSNP |
19 | g.41414081T>C | CA507557663 | BCKDHA | c.408T>C (p.Gly136=) c.342T>C (p.Gly114=) n.534T>C c.510T>C (p.Gly170=) c.215T>C c.321T>C (p.Gly107=) | |
19 | g.41414081T>G | CA507557666 | BCKDHA | c.408T>G (p.Gly136=) c.342T>G (p.Gly114=) n.534T>G c.510T>G (p.Gly170=) c.215T>G c.321T>G (p.Gly107=) | |
19 | g.41414081T= | CA2336455334 | BCKDHA | c.408T= (p.Gly136=) c.342T= (p.Gly114=) n.534T= c.510T= (p.Gly170=) c.215T= c.321T= (p.Gly107=) | |
19 | g.41414082G>A | CA406007842 | BCKDHA | c.409G>A (p.Glu137Lys) c.343G>A (p.Glu115Lys) n.535G>A c.511G>A (p.Glu171Lys) c.216G>A c.322G>A (p.Glu108Lys) | |
19 | g.41414082G>C | CA406007845 | BCKDHA | c.409G>C (p.Glu137Gln) c.343G>C (p.Glu115Gln) n.535G>C c.511G>C (p.Glu171Gln) c.216G>C c.322G>C (p.Glu108Gln) | |
19 | g.41414082G>T | CA406007846 | BCKDHA | c.409G>T (p.Glu137Ter) c.343G>T (p.Glu115Ter) n.535G>T c.511G>T (p.Glu171Ter) c.216G>T c.322G>T (p.Glu108Ter) | |
19 | g.41414083A>C | CA406007847 | BCKDHA | c.410A>C (p.Glu137Ala) c.344A>C (p.Glu115Ala) n.536A>C c.512A>C (p.Glu171Ala) c.217A>C c.323A>C (p.Glu108Ala) | |
19 | g.41414083A>G | CA406007849 | BCKDHA | c.410A>G (p.Glu137Gly) c.344A>G (p.Glu115Gly) n.536A>G c.512A>G (p.Glu171Gly) c.217A>G c.323A>G (p.Glu108Gly) | |
19 | g.41414083A>T | CA406007860 | BCKDHA | c.410A>T (p.Glu137Val) c.344A>T (p.Glu115Val) n.536A>T c.512A>T (p.Glu171Val) c.217A>T c.323A>T (p.Glu108Val) | |
19 | g.41414084G>A | CA507557672 | BCKDHA | c.411G>A (p.Glu137=) c.345G>A (p.Glu115=) n.537G>A c.513G>A (p.Glu171=) c.218G>A c.324G>A (p.Glu108=) | |
19 | g.41414084G>C | CA406007864 | BCKDHA | c.411G>C (p.Glu137Asp) c.345G>C (p.Glu115Asp) n.537G>C c.513G>C (p.Glu171Asp) c.218G>C c.324G>C (p.Glu108Asp) | |
19 | g.41414084G>T | CA406007867 | BCKDHA | c.411G>T (p.Glu137Asp) c.345G>T (p.Glu115Asp) n.537G>T c.513G>T (p.Glu171Asp) c.218G>T c.324G>T (p.Glu108Asp) | |
19 | g.41414085G>A | CA406007870 | BCKDHA | c.412G>A (p.Glu138Lys) c.346G>A (p.Glu116Lys) n.538G>A c.514G>A (p.Glu172Lys) c.219G>A c.325G>A (p.Glu109Lys) | |
19 | g.41414085G>C | CA406007872 | BCKDHA | c.412G>C (p.Glu138Gln) c.346G>C (p.Glu116Gln) n.538G>C c.514G>C (p.Glu172Gln) c.219G>C c.325G>C (p.Glu109Gln) | |
19 | g.41414085G>T | CA406007875 | BCKDHA | c.412G>T (p.Glu138Ter) c.346G>T (p.Glu116Ter) n.538G>T c.514G>T (p.Glu172Ter) c.219G>T c.325G>T (p.Glu109Ter) | |
19 | g.41414086A>C | CA406007879 | BCKDHA | c.413A>C (p.Glu138Ala) c.347A>C (p.Glu116Ala) n.539A>C c.515A>C (p.Glu172Ala) c.220A>C c.326A>C (p.Glu109Ala) | |
19 | g.41414086A>G | CA406007882 | BCKDHA | c.413A>G (p.Glu138Gly) c.347A>G (p.Glu116Gly) n.539A>G c.515A>G (p.Glu172Gly) c.220A>G c.326A>G (p.Glu109Gly) | |
19 | g.41414086A>T | CA406007885 | BCKDHA | c.413A>T (p.Glu138Val) c.347A>T (p.Glu116Val) n.539A>T c.515A>T (p.Glu172Val) c.220A>T c.326A>T (p.Glu109Val) | |
19 | g.41414087G>A | CA507557694 | BCKDHA | c.414G>A (p.Glu138=) c.348G>A (p.Glu116=) n.540G>A c.516G>A (p.Glu172=) c.221G>A c.327G>A (p.Glu109=) | |
19 | g.41414087G>C | CA406007895 | BCKDHA | c.414G>C (p.Glu138Asp) c.348G>C (p.Glu116Asp) n.540G>C c.516G>C (p.Glu172Asp) c.221G>C c.327G>C (p.Glu109Asp) | |
19 | g.41414087G>T | CA406007892 | BCKDHA | c.414G>T (p.Glu138Asp) c.348G>T (p.Glu116Asp) n.540G>T c.516G>T (p.Glu172Asp) c.221G>T c.327G>T (p.Glu109Asp) | |
19 | g.41414089del | CA2739276856 | BCKDHA | c.416del (p.Gly139AlafsTer26) c.350del (p.Gly117AlafsTer26) n.542del c.518del (p.Gly173AlafsTer26) c.223del c.329del (p.Gly110AlafsTer26) | ClinVar |
19 | g.41414088G>A | CA406007897 | BCKDHA | c.415G>A (p.Gly139Ser) c.349G>A (p.Gly117Ser) n.541G>A c.517G>A (p.Gly173Ser) c.222G>A c.328G>A (p.Gly110Ser) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.41414088G>C | CA406007899 | BCKDHA | c.415G>C (p.Gly139Arg) c.349G>C (p.Gly117Arg) n.541G>C c.517G>C (p.Gly173Arg) c.222G>C c.328G>C (p.Gly110Arg) | |
19 | g.41414088G= | CA2336455335 | BCKDHA | c.415G= (p.Gly139=) c.349G= (p.Gly117=) n.541G= c.517G= (p.Gly173=) c.222G= c.328G= (p.Gly110=) | |
19 | g.41414088G>T | CA406007903 | BCKDHA | c.415G>T (p.Gly139Cys) c.349G>T (p.Gly117Cys) n.541G>T c.517G>T (p.Gly173Cys) c.222G>T c.328G>T (p.Gly110Cys) | |
19 | g.41414089G>A | CA406007905 | BCKDHA | c.416G>A (p.Gly139Asp) c.350G>A (p.Gly117Asp) n.542G>A c.518G>A (p.Gly173Asp) c.223G>A c.329G>A (p.Gly110Asp) | gnomAD v4 |
19 | g.41414089G>C | CA406007907 | BCKDHA | c.416G>C (p.Gly139Ala) c.350G>C (p.Gly117Ala) n.542G>C c.518G>C (p.Gly173Ala) c.223G>C c.329G>C (p.Gly110Ala) | |
19 | g.41414089G>T | CA406007911 | BCKDHA | c.416G>T (p.Gly139Val) c.350G>T (p.Gly117Val) n.542G>T c.518G>T (p.Gly173Val) c.223G>T c.329G>T (p.Gly110Val) | |
19 | g.41414090C>A | CA507557710 | BCKDHA | c.417C>A (p.Gly139=) c.351C>A (p.Gly117=) n.543C>A c.519C>A (p.Gly173=) c.224C>A c.330C>A (p.Gly110=) | |
19 | g.41414090C>G | CA507557716 | BCKDHA | c.417C>G (p.Gly139=) c.351C>G (p.Gly117=) n.543C>G c.519C>G (p.Gly173=) c.224C>G c.330C>G (p.Gly110=) | |
19 | g.41414090C>T | CA507557713 | BCKDHA | c.417C>T (p.Gly139=) c.351C>T (p.Gly117=) n.543C>T c.519C>T (p.Gly173=) c.224C>T c.330C>T (p.Gly110=) | |
19 | g.41414091A>C | CA406007919 | BCKDHA | c.418A>C (p.Thr140Pro) c.352A>C (p.Thr118Pro) n.544A>C c.520A>C (p.Thr174Pro) c.225A>C c.331A>C (p.Thr111Pro) | |
19 | g.41414091A>G | CA406007915 | BCKDHA | c.418A>G (p.Thr140Ala) c.352A>G (p.Thr118Ala) n.544A>G c.520A>G (p.Thr174Ala) c.225A>G c.331A>G (p.Thr111Ala) | |
19 | g.41414091A>T | CA406007918 | BCKDHA | c.418A>T (p.Thr140Ser) c.352A>T (p.Thr118Ser) n.544A>T c.520A>T (p.Thr174Ser) c.225A>T c.331A>T (p.Thr111Ser) | |
19 | g.41414092C>A | CA406007921 | BCKDHA | c.419C>A (p.Thr140Lys) c.353C>A (p.Thr118Lys) n.545C>A c.521C>A (p.Thr174Lys) c.226C>A c.332C>A (p.Thr111Lys) | |
19 | g.41414092C= | CA2336455336 | BCKDHA | c.419C= (p.Thr140=) c.353C= (p.Thr118=) n.545C= c.521C= (p.Thr174=) c.226C= c.332C= (p.Thr111=) | |
19 | g.41414092C>G | CA406007925 | BCKDHA | c.419C>G (p.Thr140Arg) c.353C>G (p.Thr118Arg) n.545C>G c.521C>G (p.Thr174Arg) c.226C>G c.332C>G (p.Thr111Arg) | |
19 | g.41414092C>T | CA406007932 | BCKDHA | c.419C>T (p.Thr140Met) c.353C>T (p.Thr118Met) n.545C>T c.521C>T (p.Thr174Met) c.226C>T c.332C>T (p.Thr111Met) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41414093G>A | CA9461134 | BCKDHA | c.420G>A (p.Thr140=) c.354G>A (p.Thr118=) n.546G>A c.522G>A (p.Thr174=) c.227G>A c.333G>A (p.Thr111=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41414093G>C | CA507557737 | BCKDHA | c.420G>C (p.Thr140=) c.354G>C (p.Thr118=) n.546G>C c.522G>C (p.Thr174=) c.227G>C c.333G>C (p.Thr111=) | ClinVar |
19 | g.41414093G= | CA2336455337 | BCKDHA | c.420G= (p.Thr140=) c.354G= (p.Thr118=) n.546G= c.522G= (p.Thr174=) c.227G= c.333G= (p.Thr111=) | |
19 | g.41414093G>T | CA9461133 | BCKDHA | c.420G>T (p.Thr140=) c.354G>T (p.Thr118=) n.546G>T c.522G>T (p.Thr174=) c.227G>T c.333G>T (p.Thr111=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41414094C>A | CA406007941 | BCKDHA | c.421C>A (p.His141Asn) c.355C>A (p.His119Asn) n.547C>A c.523C>A (p.His175Asn) c.228C>A c.334C>A (p.His112Asn) | ClinVar dbSNP gnomAD v4 |
19 | g.41414094C= | CA2336455338 | BCKDHA | c.421C= (p.His141=) c.355C= (p.His119=) n.547C= c.523C= (p.His175=) c.228C= c.334C= (p.His112=) | |
19 | g.41414094C>G | CA406007948 | BCKDHA | c.421C>G (p.His141Asp) c.355C>G (p.His119Asp) n.547C>G c.523C>G (p.His175Asp) c.228C>G c.334C>G (p.His112Asp) | |
19 | g.41414094C>T | CA406007945 | BCKDHA | c.421C>T (p.His141Tyr) c.355C>T (p.His119Tyr) n.547C>T c.523C>T (p.His175Tyr) c.228C>T c.334C>T (p.His112Tyr) | |
19 | g.41414095A>C | CA406007952 | BCKDHA | c.422A>C (p.His141Pro) c.356A>C (p.His119Pro) n.548A>C c.524A>C (p.His175Pro) c.229A>C c.335A>C (p.His112Pro) | |
19 | g.41414095A>G | CA406007955 | BCKDHA | c.422A>G (p.His141Arg) c.356A>G (p.His119Arg) n.548A>G c.524A>G (p.His175Arg) c.229A>G c.335A>G (p.His112Arg) | |
19 | g.41414095A>T | CA406007957 | BCKDHA | c.422A>T (p.His141Leu) c.356A>T (p.His119Leu) n.548A>T c.524A>T (p.His175Leu) c.229A>T c.335A>T (p.His112Leu) | |
19 | g.41414096C>A | CA406007959 | BCKDHA | c.423C>A (p.His141Gln) c.357C>A (p.His119Gln) n.549C>A c.525C>A (p.His175Gln) c.230C>A c.336C>A (p.His112Gln) | |
19 | g.41414096C= | CA2336455339 | BCKDHA | c.423C= (p.His141=) c.357C= (p.His119=) n.549C= c.525C= (p.His175=) c.230C= c.336C= (p.His112=) | |
19 | g.41414096C>G | CA9461136 | BCKDHA | c.423C>G (p.His141Gln) c.357C>G (p.His119Gln) n.549C>G c.525C>G (p.His175Gln) c.230C>G c.336C>G (p.His112Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41414096C>T | CA9461135 | BCKDHA | c.423C>T (p.His141=) c.357C>T (p.His119=) n.549C>T c.525C>T (p.His175=) c.230C>T c.336C>T (p.His112=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41414097G>A | CA9461137 | BCKDHA | c.424G>A (p.Val142Met) c.358G>A (p.Val120Met) n.550G>A c.526G>A (p.Val176Met) c.231G>A c.337G>A (p.Val113Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41414097G>C | CA406007969 | BCKDHA | c.424G>C (p.Val142Leu) c.358G>C (p.Val120Leu) n.550G>C c.526G>C (p.Val176Leu) c.231G>C c.337G>C (p.Val113Leu) | |
19 | g.41414097G= | CA2336455340 | BCKDHA | c.424G= (p.Val142=) c.358G= (p.Val120=) n.550G= c.526G= (p.Val176=) c.231G= c.337G= (p.Val113=) | |
19 | g.41414097G>T | CA406007972 | BCKDHA | c.424G>T (p.Val142Leu) c.358G>T (p.Val120Leu) n.550G>T c.526G>T (p.Val176Leu) c.231G>T c.337G>T (p.Val113Leu) | |
19 | g.41414098T>A | CA406007977 | BCKDHA | c.425T>A (p.Val142Glu) c.359T>A (p.Val120Glu) n.551T>A c.527T>A (p.Val176Glu) c.232T>A c.338T>A (p.Val113Glu) | |
19 | g.41414098T>C | CA406007981 | BCKDHA | c.425T>C (p.Val142Ala) c.359T>C (p.Val120Ala) n.551T>C c.527T>C (p.Val176Ala) c.232T>C c.338T>C (p.Val113Ala) | |
19 | g.41414098T>G | CA406007984 | BCKDHA | c.425T>G (p.Val142Gly) c.359T>G (p.Val120Gly) n.551T>G c.527T>G (p.Val176Gly) c.232T>G c.338T>G (p.Val113Gly) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41414098T= | CA2336455341 | BCKDHA | c.425T= (p.Val142=) c.359T= (p.Val120=) n.551T= c.527T= (p.Val176=) c.232T= c.338T= (p.Val113=) | |
19 | g.41414099G>A | CA9461138 | BCKDHA | c.426G>A (p.Val142=) c.360G>A (p.Val120=) n.552G>A c.528G>A (p.Val176=) c.233G>A c.339G>A (p.Val113=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41414099G>C | CA507557772 | BCKDHA | c.426G>C (p.Val142=) c.360G>C (p.Val120=) n.552G>C c.528G>C (p.Val176=) c.233G>C c.339G>C (p.Val113=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41414099G= | CA2336455342 | BCKDHA | c.426G= (p.Val142=) c.360G= (p.Val120=) n.552G= c.528G= (p.Val176=) c.233G= c.339G= (p.Val113=) | |
19 | g.41414099G>T | CA507557775 | BCKDHA | c.426G>T (p.Val142=) c.360G>T (p.Val120=) n.552G>T c.528G>T (p.Val176=) c.233G>T c.339G>T (p.Val113=) | |
19 | g.41414102del | CA2580097289 | BCKDHA | c.429del (p.Ser144ValfsTer21) c.363del (p.Ser122ValfsTer21) n.555del c.531del (p.Ser178ValfsTer21) c.236del c.342del (p.Ser115ValfsTer21) | ClinVar |
19 | g.41414100G>A | CA406007997 | BCKDHA | c.427G>A (p.Gly143Arg) c.361G>A (p.Gly121Arg) n.553G>A c.529G>A (p.Gly177Arg) c.234G>A c.340G>A (p.Gly114Arg) | |
19 | g.41414100G>C | CA406007990 | BCKDHA | c.427G>C (p.Gly143Arg) c.361G>C (p.Gly121Arg) n.553G>C c.529G>C (p.Gly177Arg) c.234G>C c.340G>C (p.Gly114Arg) | |
19 | g.41414100G>T | CA406007994 | BCKDHA | c.427G>T (p.Gly143Trp) c.361G>T (p.Gly121Trp) n.553G>T c.529G>T (p.Gly177Trp) c.234G>T c.340G>T (p.Gly114Trp) | |
19 | g.41414101G>A | CA406008001 | BCKDHA | c.428G>A (p.Gly143Glu) c.362G>A (p.Gly121Glu) n.554G>A c.530G>A (p.Gly177Glu) c.235G>A c.341G>A (p.Gly114Glu) | ClinVar dbSNP |
19 | g.41414101G>C | CA406008004 | BCKDHA | c.428G>C (p.Gly143Ala) c.362G>C (p.Gly121Ala) n.554G>C c.530G>C (p.Gly177Ala) c.235G>C c.341G>C (p.Gly114Ala) | |
19 | g.41414101G= | CA2336455343 | BCKDHA | c.428G= (p.Gly143=) c.362G= (p.Gly121=) n.554G= c.530G= (p.Gly177=) c.235G= c.341G= (p.Gly114=) | |
19 | g.41414101G>T | CA406008007 | BCKDHA | c.428G>T (p.Gly143Val) c.362G>T (p.Gly121Val) n.554G>T c.530G>T (p.Gly177Val) c.235G>T c.341G>T (p.Gly114Val) | |
19 | g.41414102G>A | CA507557790 | BCKDHA | c.429G>A (p.Gly143=) c.363G>A (p.Gly121=) n.555G>A c.531G>A (p.Gly177=) c.236G>A c.342G>A (p.Gly114=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41414102G>C | CA507557792 | BCKDHA | c.429G>C (p.Gly143=) c.363G>C (p.Gly121=) n.555G>C c.531G>C (p.Gly177=) c.236G>C c.342G>C (p.Gly114=) | |
19 | g.41414102G= | CA2336455344 | BCKDHA | c.429G= (p.Gly143=) c.363G= (p.Gly121=) n.555G= c.531G= (p.Gly177=) c.236G= c.342G= (p.Gly114=) | |
19 | g.41414102G>T | CA507557795 | BCKDHA | c.429G>T (p.Gly143=) c.363G>T (p.Gly121=) n.555G>T c.531G>T (p.Gly177=) c.236G>T c.342G>T (p.Gly114=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41414103A= | CA2336455345 | BCKDHA | c.430A= (p.Ser144=) c.364A= (p.Ser122=) n.556A= c.532A= (p.Ser178=) c.237A= c.343A= (p.Ser115=) | |
19 | g.41414103A>C | CA406008012 | BCKDHA | c.430A>C (p.Ser144Arg) c.364A>C (p.Ser122Arg) n.556A>C c.532A>C (p.Ser178Arg) c.237A>C c.343A>C (p.Ser115Arg) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41414103A>G | CA406008014 | BCKDHA | c.430A>G (p.Ser144Gly) c.364A>G (p.Ser122Gly) n.556A>G c.532A>G (p.Ser178Gly) c.237A>G c.343A>G (p.Ser115Gly) | |
19 | g.41414103A>T | CA406008019 | BCKDHA | c.430A>T (p.Ser144Cys) c.364A>T (p.Ser122Cys) n.556A>T c.532A>T (p.Ser178Cys) c.237A>T c.343A>T (p.Ser115Cys) | |
19 | g.41414104G>A | CA9461139 | BCKDHA | c.431G>A (p.Ser144Asn) c.365G>A (p.Ser122Asn) n.557G>A c.533G>A (p.Ser178Asn) c.238G>A c.344G>A (p.Ser115Asn) | dbSNP ExAC gnomAD v2 |
19 | g.41414104G>C | CA406008026 | BCKDHA | c.431G>C (p.Ser144Thr) c.365G>C (p.Ser122Thr) n.557G>C c.533G>C (p.Ser178Thr) c.238G>C c.344G>C (p.Ser115Thr) | |
19 | g.41414104G= | CA2336455346 | BCKDHA | c.431G= (p.Ser144=) c.365G= (p.Ser122=) n.557G= c.533G= (p.Ser178=) c.238G= c.344G= (p.Ser115=) | |
19 | g.41414104G>T | CA406008029 | BCKDHA | c.431G>T (p.Ser144Ile) c.365G>T (p.Ser122Ile) n.557G>T c.533G>T (p.Ser178Ile) c.238G>T c.344G>T (p.Ser115Ile) | |
19 | g.41414105T>A | CA406008033 | BCKDHA | c.432T>A (p.Ser144Arg) c.366T>A (p.Ser122Arg) n.558T>A c.534T>A (p.Ser178Arg) c.239T>A c.345T>A (p.Ser115Arg) | |
19 | g.41414105T>C | CA308518013 | BCKDHA | c.432T>C (p.Ser144=) c.366T>C (p.Ser122=) n.558T>C c.534T>C (p.Ser178=) c.239T>C c.345T>C (p.Ser115=) | dbSNP |
19 | g.41414105T>G | CA406008039 | BCKDHA | c.432T>G (p.Ser144Arg) c.366T>G (p.Ser122Arg) n.558T>G c.534T>G (p.Ser178Arg) c.239T>G c.345T>G (p.Ser115Arg) | |
19 | g.41414105T= | CA2336455347 | BCKDHA | c.432T= (p.Ser144=) c.366T= (p.Ser122=) n.558T= c.534T= (p.Ser178=) c.239T= c.345T= (p.Ser115=) | |
19 | g.41414106G>A | CA406008050 | BCKDHA | c.433G>A (p.Ala145Thr) c.367G>A (p.Ala123Thr) n.559G>A c.535G>A (p.Ala179Thr) c.240G>A c.346G>A (p.Ala116Thr) | gnomAD v4 |
19 | g.41414106G>C | CA406008044 | BCKDHA | c.433G>C (p.Ala145Pro) c.367G>C (p.Ala123Pro) n.559G>C c.535G>C (p.Ala179Pro) c.240G>C c.346G>C (p.Ala116Pro) | |
19 | g.41414106G= | CA2336455348 | BCKDHA | c.433G= (p.Ala145=) c.367G= (p.Ala123=) n.559G= c.535G= (p.Ala179=) c.240G= c.346G= (p.Ala116=) | |
19 | g.41414106G>T | CA406008046 | BCKDHA | c.433G>T (p.Ala145Ser) c.367G>T (p.Ala123Ser) n.559G>T c.535G>T (p.Ala179Ser) c.240G>T c.346G>T (p.Ala116Ser) | dbSNP gnomAD v4 |
19 | g.41414107C>A | CA406008054 | BCKDHA | c.434C>A (p.Ala145Asp) c.368C>A (p.Ala123Asp) n.560C>A c.536C>A (p.Ala179Asp) c.241C>A c.347C>A (p.Ala116Asp) | |
19 | g.41414107C= | CA2336455349 | BCKDHA | c.434C= (p.Ala145=) c.368C= (p.Ala123=) n.560C= c.536C= (p.Ala179=) c.241C= c.347C= (p.Ala116=) | |
19 | g.41414107C>G | CA406008058 | BCKDHA | c.434C>G (p.Ala145Gly) c.368C>G (p.Ala123Gly) n.560C>G c.536C>G (p.Ala179Gly) c.241C>G c.347C>G (p.Ala116Gly) | |
19 | g.41414107C>T | CA406008060 | BCKDHA | c.434C>T (p.Ala145Val) c.368C>T (p.Ala123Val) n.560C>T c.536C>T (p.Ala179Val) c.241C>T c.347C>T (p.Ala116Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.41414108C>A | CA507557832 | BCKDHA | c.435C>A (p.Ala145=) c.369C>A (p.Ala123=) n.561C>A c.537C>A (p.Ala179=) c.242C>A c.348C>A (p.Ala116=) | gnomAD v4 |
19 | g.41414108C= | CA2336455350 | BCKDHA | c.435C= (p.Ala145=) c.369C= (p.Ala123=) n.561C= c.537C= (p.Ala179=) c.242C= c.348C= (p.Ala116=) | |
19 | g.41414108C>G | CA507557848 | BCKDHA | c.435C>G (p.Ala145=) c.369C>G (p.Ala123=) n.561C>G c.537C>G (p.Ala179=) c.242C>G c.348C>G (p.Ala116=) | |
19 | g.41414108C>T | CA9461140 | BCKDHA | c.435C>T (p.Ala145=) c.369C>T (p.Ala123=) n.561C>T c.537C>T (p.Ala179=) c.242C>T c.348C>T (p.Ala116=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41414109G>A | CA9461141 | BCKDHA | c.436G>A (p.Ala146Thr) c.370G>A (p.Ala124Thr) n.562G>A c.538G>A (p.Ala180Thr) c.243G>A c.349G>A (p.Ala117Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41414109G>C | CA406008069 | BCKDHA | c.436G>C (p.Ala146Pro) c.370G>C (p.Ala124Pro) n.562G>C c.538G>C (p.Ala180Pro) c.243G>C c.349G>C (p.Ala117Pro) | |
19 | g.41414109G= | CA2336455351 | BCKDHA | c.436G= (p.Ala146=) c.370G= (p.Ala124=) n.562G= c.538G= (p.Ala180=) c.243G= c.349G= (p.Ala117=) | |
19 | g.41414109G>T | CA406008073 | BCKDHA | c.436G>T (p.Ala146Ser) c.370G>T (p.Ala124Ser) n.562G>T c.538G>T (p.Ala180Ser) c.243G>T c.349G>T (p.Ala117Ser) | |
19 | g.41414110C>A | CA406008078 | BCKDHA | c.437C>A (p.Ala146Asp) c.371C>A (p.Ala124Asp) n.563C>A c.539C>A (p.Ala180Asp) c.244C>A c.350C>A (p.Ala117Asp) | |
19 | g.41414110C>G | CA406008083 | BCKDHA | c.437C>G (p.Ala146Gly) c.371C>G (p.Ala124Gly) n.563C>G c.539C>G (p.Ala180Gly) c.244C>G c.350C>G (p.Ala117Gly) | |
19 | g.41414110C>T | CA406008081 | BCKDHA | c.437C>T (p.Ala146Val) c.371C>T (p.Ala124Val) n.563C>T c.539C>T (p.Ala180Val) c.244C>T c.350C>T (p.Ala117Val) | |
19 | g.41414111C>A | CA507557878 | BCKDHA | c.438C>A (p.Ala146=) c.372C>A (p.Ala124=) n.564C>A c.540C>A (p.Ala180=) c.245C>A c.351C>A (p.Ala117=) | |
19 | g.41414111C= | CA2336455352 | BCKDHA | c.438C= (p.Ala146=) c.372C= (p.Ala124=) n.564C= c.540C= (p.Ala180=) c.245C= c.351C= (p.Ala117=) | |
19 | g.41414111C>G | CA507557884 | BCKDHA | c.438C>G (p.Ala146=) c.372C>G (p.Ala124=) n.564C>G c.540C>G (p.Ala180=) c.245C>G c.351C>G (p.Ala117=) | ClinVar dbSNP |
19 | g.41414111C>T | CA9461142 | BCKDHA | c.438C>T (p.Ala146=) c.372C>T (p.Ala124=) n.564C>T c.540C>T (p.Ala180=) c.245C>T c.351C>T (p.Ala117=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.41414112G>A | CA406008089 | BCKDHA | c.439G>A (p.Ala147Thr) c.373G>A (p.Ala125Thr) n.565G>A c.541G>A (p.Ala181Thr) c.246G>A c.352G>A (p.Ala118Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.41414112G>C | CA406008092 | BCKDHA | c.439G>C (p.Ala147Pro) c.373G>C (p.Ala125Pro) n.565G>C c.541G>C (p.Ala181Pro) c.246G>C c.352G>C (p.Ala118Pro) | |
19 | g.41414112G= | CA2336455353 | BCKDHA | c.439G= (p.Ala147=) c.373G= (p.Ala125=) n.565G= c.541G= (p.Ala181=) c.246G= c.352G= (p.Ala118=) | |
19 | g.41414112G>T | CA9461143 | BCKDHA | c.439G>T (p.Ala147Ser) c.373G>T (p.Ala125Ser) n.565G>T c.541G>T (p.Ala181Ser) c.246G>T c.352G>T (p.Ala118Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41414113C>A | CA406008104 | BCKDHA | c.440C>A (p.Ala147Asp) c.374C>A (p.Ala125Asp) n.566C>A c.542C>A (p.Ala181Asp) c.247C>A c.353C>A (p.Ala118Asp) | |
19 | g.41414113C>G | CA406008097 | BCKDHA | c.440C>G (p.Ala147Gly) c.374C>G (p.Ala125Gly) n.566C>G c.542C>G (p.Ala181Gly) c.247C>G c.353C>G (p.Ala118Gly) | |
19 | g.41414113C>T | CA406008102 | BCKDHA | c.440C>T (p.Ala147Val) c.374C>T (p.Ala125Val) n.566C>T c.542C>T (p.Ala181Val) c.247C>T c.353C>T (p.Ala118Val) | |
19 | g.41414113_41414114delinsTT | CA645614573 | BCKDHA | c.440_441delinsTT (p.Ala147Val) c.374_375delinsTT (p.Ala125Val) n.566_567delinsTT c.542_543delinsTT (p.Ala181Val) c.247_248delinsTT c.353_354delinsTT (p.Ala118Val) | COSMIC |
19 | g.41414114C>A | CA507557895 | BCKDHA | c.441C>A (p.Ala147=) c.375C>A (p.Ala125=) n.567C>A c.543C>A (p.Ala181=) c.248C>A c.354C>A (p.Ala118=) | gnomAD v4 |
19 | g.41414114C= | CA2336455354 | BCKDHA | c.441C= (p.Ala147=) c.375C= (p.Ala125=) n.567C= c.543C= (p.Ala181=) c.248C= c.354C= (p.Ala118=) | |
19 | g.41414114C>G | CA507557896 | BCKDHA | c.441C>G (p.Ala147=) c.375C>G (p.Ala125=) n.567C>G c.543C>G (p.Ala181=) c.248C>G c.354C>G (p.Ala118=) | ClinVar dbSNP gnomAD v4 |
19 | g.41414114C>T | CA507557899 | BCKDHA | c.441C>T (p.Ala147=) c.375C>T (p.Ala125=) n.567C>T c.543C>T (p.Ala181=) c.248C>T c.354C>T (p.Ala118=) | |
19 | g.41414115C>A | CA406008108 | BCKDHA | c.442C>A (p.Leu148Met) c.376C>A (p.Leu126Met) n.568C>A c.544C>A (p.Leu182Met) c.249C>A c.355C>A (p.Leu119Met) | |
19 | g.41414115C>G | CA406008111 | BCKDHA | c.442C>G (p.Leu148Val) c.376C>G (p.Leu126Val) n.568C>G c.544C>G (p.Leu182Val) c.249C>G c.355C>G (p.Leu119Val) | |
19 | g.41414115C>T | CA507557902 | BCKDHA | c.442C>T (p.Leu148=) c.376C>T (p.Leu126=) n.568C>T c.544C>T (p.Leu182=) c.249C>T c.355C>T (p.Leu119=) | |
19 | g.41414116T>A | CA406008115 | BCKDHA | c.443T>A (p.Leu148Gln) c.377T>A (p.Leu126Gln) n.569T>A c.545T>A (p.Leu182Gln) c.250T>A c.356T>A (p.Leu119Gln) | |
19 | g.41414116T>C | CA406008117 | BCKDHA | c.443T>C (p.Leu148Pro) c.377T>C (p.Leu126Pro) n.569T>C c.545T>C (p.Leu182Pro) c.250T>C c.356T>C (p.Leu119Pro) | |
19 | g.41414116T>G | CA9461144 | BCKDHA | c.443T>G (p.Leu148Arg) c.377T>G (p.Leu126Arg) n.569T>G c.545T>G (p.Leu182Arg) c.250T>G c.356T>G (p.Leu119Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41414116T= | CA2336455355 | BCKDHA | c.443T= (p.Leu148=) c.377T= (p.Leu126=) n.569T= c.545T= (p.Leu182=) c.250T= c.356T= (p.Leu119=) | |
19 | g.41414117G>A | CA507557916 | BCKDHA | c.444G>A (p.Leu148=) c.378G>A (p.Leu126=) n.570G>A c.546G>A (p.Leu182=) c.251G>A c.357G>A (p.Leu119=) | |
19 | g.41414117G>C | CA507557917 | BCKDHA | c.444G>C (p.Leu148=) c.378G>C (p.Leu126=) n.570G>C c.546G>C (p.Leu182=) c.251G>C c.357G>C (p.Leu119=) | |
19 | g.41414117G>T | CA507557918 | BCKDHA | c.444G>T (p.Leu148=) c.378G>T (p.Leu126=) n.570G>T c.546G>T (p.Leu182=) c.251G>T c.357G>T (p.Leu119=) | |
19 | g.41414118G>A | CA406008123 | BCKDHA | c.445G>A (p.Asp149Asn) c.379G>A (p.Asp127Asn) n.571G>A c.547G>A (p.Asp183Asn) c.252G>A c.358G>A (p.Asp120Asn) | |
19 | g.41414118G>C | CA9461145 | BCKDHA | c.445G>C (p.Asp149His) c.379G>C (p.Asp127His) n.571G>C c.547G>C (p.Asp183His) c.252G>C c.358G>C (p.Asp120His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41414118G= | CA2336455356 | BCKDHA | c.445G= (p.Asp149=) c.379G= (p.Asp127=) n.571G= c.547G= (p.Asp183=) c.252G= c.358G= (p.Asp120=) | |
19 | g.41414118G>T | CA406008130 | BCKDHA | c.445G>T (p.Asp149Tyr) c.379G>T (p.Asp127Tyr) n.571G>T c.547G>T (p.Asp183Tyr) c.252G>T c.358G>T (p.Asp120Tyr) | |
19 | g.41414119A= | CA2336455357 | BCKDHA | c.446A= (p.Asp149=) c.380A= (p.Asp127=) n.572A= c.548A= (p.Asp183=) c.253A= c.359A= (p.Asp120=) | |
19 | g.41414119A>C | CA406008134 | BCKDHA | c.446A>C (p.Asp149Ala) c.380A>C (p.Asp127Ala) n.572A>C c.548A>C (p.Asp183Ala) c.253A>C c.359A>C (p.Asp120Ala) | |
19 | g.41414119A>G | CA9461146 | BCKDHA | c.446A>G (p.Asp149Gly) c.380A>G (p.Asp127Gly) n.572A>G c.548A>G (p.Asp183Gly) c.253A>G c.359A>G (p.Asp120Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41414119A>T | CA406008148 | BCKDHA | c.446A>T (p.Asp149Val) c.380A>T (p.Asp127Val) n.572A>T c.548A>T (p.Asp183Val) c.253A>T c.359A>T (p.Asp120Val) | |
19 | g.41414120C>A | CA406008150 | BCKDHA | c.447C>A (p.Asp149Glu) c.381C>A (p.Asp127Glu) n.573C>A c.549C>A (p.Asp183Glu) c.254C>A c.360C>A (p.Asp120Glu) | |
19 | g.41414120C>G | CA406008151 | BCKDHA | c.447C>G (p.Asp149Glu) c.381C>G (p.Asp127Glu) n.573C>G c.549C>G (p.Asp183Glu) c.254C>G c.360C>G (p.Asp120Glu) | |
19 | g.41414120C>T | CA507557943 | BCKDHA | c.447C>T (p.Asp149=) c.381C>T (p.Asp127=) n.573C>T c.549C>T (p.Asp183=) c.254C>T c.360C>T (p.Asp120=) | |
19 | g.41414121A= | CA2336455358 | BCKDHA | c.448A= (p.Asn150=) c.382A= (p.Asn128=) n.574A= c.550A= (p.Asn184=) c.255A= c.361A= (p.Asn121=) | |
19 | g.41414121A>C | CA406008154 | BCKDHA | c.448A>C (p.Asn150His) c.382A>C (p.Asn128His) n.574A>C c.550A>C (p.Asn184His) c.255A>C c.361A>C (p.Asn121His) | |
19 | g.41414121A>G | CA9461147 | BCKDHA | c.448A>G (p.Asn150Asp) c.382A>G (p.Asn128Asp) n.574A>G c.550A>G (p.Asn184Asp) c.255A>G c.361A>G (p.Asn121Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41414121A>T | CA406008152 | BCKDHA | c.448A>T (p.Asn150Tyr) c.382A>T (p.Asn128Tyr) n.574A>T c.550A>T (p.Asn184Tyr) c.255A>T c.361A>T (p.Asn121Tyr) | |
19 | g.41414122A= | CA2336455359 | BCKDHA | c.449A= (p.Asn150=) c.383A= (p.Asn128=) n.575A= c.551A= (p.Asn184=) c.256A= c.362A= (p.Asn121=) | |
19 | g.41414122A>C | CA406008159 | BCKDHA | c.449A>C (p.Asn150Thr) c.383A>C (p.Asn128Thr) n.575A>C c.551A>C (p.Asn184Thr) c.256A>C c.362A>C (p.Asn121Thr) | |
19 | g.41414122A>G | CA406008163 | BCKDHA | c.449A>G (p.Asn150Ser) c.383A>G (p.Asn128Ser) n.575A>G c.551A>G (p.Asn184Ser) c.256A>G c.362A>G (p.Asn121Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.41414122A>T | CA406008167 | BCKDHA | c.449A>T (p.Asn150Ile) c.383A>T (p.Asn128Ile) n.575A>T c.551A>T (p.Asn184Ile) c.256A>T c.362A>T (p.Asn121Ile) | |
19 | g.41414123C>A | CA9461148 | BCKDHA | c.450C>A (p.Asn150Lys) c.384C>A (p.Asn128Lys) n.576C>A c.552C>A (p.Asn184Lys) c.257C>A c.363C>A (p.Asn121Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41414123C= | CA2336455360 | BCKDHA | c.450C= (p.Asn150=) c.384C= (p.Asn128=) n.576C= c.552C= (p.Asn184=) c.257C= c.363C= (p.Asn121=) | |
19 | g.41414123C>G | CA9461149 | BCKDHA | c.450C>G (p.Asn150Lys) c.384C>G (p.Asn128Lys) n.576C>G c.552C>G (p.Asn184Lys) c.257C>G c.363C>G (p.Asn121Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41414123C>T | CA507557967 | BCKDHA | c.450C>T (p.Asn150=) c.384C>T (p.Asn128=) n.576C>T c.552C>T (p.Asn184=) c.257C>T c.363C>T (p.Asn121=) | |
19 | g.41414124A>C | CA406008172 | BCKDHA | c.451A>C (p.Thr151Pro) c.385A>C (p.Thr129Pro) n.577A>C c.553A>C (p.Thr185Pro) c.258A>C c.364A>C (p.Thr122Pro) | |
19 | g.41414124A>G | CA406008174 | BCKDHA | c.451A>G (p.Thr151Ala) c.385A>G (p.Thr129Ala) n.577A>G c.553A>G (p.Thr185Ala) c.258A>G c.364A>G (p.Thr122Ala) | |
19 | g.41414124A>T | CA406008176 | BCKDHA | c.451A>T (p.Thr151Ser) c.385A>T (p.Thr129Ser) n.577A>T c.553A>T (p.Thr185Ser) c.258A>T c.364A>T (p.Thr122Ser) | |
19 | g.41414125C>A | CA406008179 | BCKDHA | c.452C>A (p.Thr151Lys) c.386C>A (p.Thr129Lys) n.578C>A c.554C>A (p.Thr185Lys) c.259C>A c.365C>A (p.Thr122Lys) | |
19 | g.41414125C= | CA2336455361 | BCKDHA | c.452C= (p.Thr151=) c.386C= (p.Thr129=) n.578C= c.554C= (p.Thr185=) c.259C= c.365C= (p.Thr122=) | |
19 | g.41414125C>G | CA406008181 | BCKDHA | c.452C>G (p.Thr151Arg) c.386C>G (p.Thr129Arg) n.578C>G c.554C>G (p.Thr185Arg) c.259C>G c.365C>G (p.Thr122Arg) | |
19 | g.41414125C>T | CA146875 | BCKDHA | c.452C>T (p.Thr151Met) c.386C>T (p.Thr129Met) n.578C>T c.554C>T (p.Thr185Met) c.259C>T c.365C>T (p.Thr122Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.41414126G>A | CA9461150 | BCKDHA | c.453G>A (p.Thr151=) c.387G>A (p.Thr129=) n.579G>A c.555G>A (p.Thr185=) c.260G>A c.366G>A (p.Thr122=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41414126G>C | CA507557978 | BCKDHA | c.453G>C (p.Thr151=) c.387G>C (p.Thr129=) n.579G>C c.555G>C (p.Thr185=) c.260G>C c.366G>C (p.Thr122=) | |
19 | g.41414126G= | CA2336455362 | BCKDHA | c.453G= (p.Thr151=) c.387G= (p.Thr129=) n.579G= c.555G= (p.Thr185=) c.260G= c.366G= (p.Thr122=) | |
19 | g.41414126G>T | CA507557980 | BCKDHA | c.453G>T (p.Thr151=) c.387G>T (p.Thr129=) n.579G>T c.555G>T (p.Thr185=) c.260G>T c.366G>T (p.Thr122=) | |
19 | g.41414127G>A | CA406008194 | BCKDHA | c.454G>A (p.Asp152Asn) c.388G>A (p.Asp130Asn) n.580G>A c.556G>A (p.Asp186Asn) c.261G>A c.367G>A (p.Asp123Asn) | ClinVar dbSNP |
19 | g.41414127G>C | CA406008193 | BCKDHA | c.454G>C (p.Asp152His) c.388G>C (p.Asp130His) n.580G>C c.556G>C (p.Asp186His) c.261G>C c.367G>C (p.Asp123His) | |
19 | g.41414127G>T | CA406008190 | BCKDHA | c.454G>T (p.Asp152Tyr) c.388G>T (p.Asp130Tyr) n.580G>T c.556G>T (p.Asp186Tyr) c.261G>T c.367G>T (p.Asp123Tyr) | |
19 | g.41414128A>C | CA406008195 | BCKDHA | c.455A>C (p.Asp152Ala) c.389A>C (p.Asp130Ala) n.581A>C c.557A>C (p.Asp186Ala) c.262A>C c.368A>C (p.Asp123Ala) | |
19 | g.41414128A>G | CA406008198 | BCKDHA | c.455A>G (p.Asp152Gly) c.389A>G (p.Asp130Gly) n.581A>G c.557A>G (p.Asp186Gly) c.262A>G c.368A>G (p.Asp123Gly) | |
19 | g.41414128A>T | CA406008201 | BCKDHA | c.455A>T (p.Asp152Val) c.389A>T (p.Asp130Val) n.581A>T c.557A>T (p.Asp186Val) c.262A>T c.368A>T (p.Asp123Val) | |
19 | g.41414129C>A | CA406008204 | BCKDHA | c.456C>A (p.Asp152Glu) c.390C>A (p.Asp130Glu) n.582C>A c.558C>A (p.Asp186Glu) c.263C>A c.369C>A (p.Asp123Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.41414129C= | CA2336455363 | BCKDHA | c.456C= (p.Asp152=) c.390C= (p.Asp130=) n.582C= c.558C= (p.Asp186=) c.263C= c.369C= (p.Asp123=) | |
19 | g.41414129C>G | CA406008207 | BCKDHA | c.456C>G (p.Asp152Glu) c.390C>G (p.Asp130Glu) n.582C>G c.558C>G (p.Asp186Glu) c.263C>G c.369C>G (p.Asp123Glu) | dbSNP |
19 | g.41414129C>T | CA507558004 | BCKDHA | c.456C>T (p.Asp152=) c.390C>T (p.Asp130=) n.582C>T c.558C>T (p.Asp186=) c.263C>T c.369C>T (p.Asp123=) | |
19 | g.41414130C>A | CA406008211 | BCKDHA | c.457C>A (p.Leu153Met) c.391C>A (p.Leu131Met) n.583C>A c.559C>A (p.Leu187Met) c.264C>A c.370C>A (p.Leu124Met) | |
19 | g.41414130C>G | CA406008214 | BCKDHA | c.457C>G (p.Leu153Val) c.391C>G (p.Leu131Val) n.583C>G c.559C>G (p.Leu187Val) c.264C>G c.370C>G (p.Leu124Val) | gnomAD v4 |
19 | g.41414130C>T | CA507558020 | BCKDHA | c.457C>T (p.Leu153=) c.391C>T (p.Leu131=) n.583C>T c.559C>T (p.Leu187=) c.264C>T c.370C>T (p.Leu124=) | |
19 | g.41414131T>A | CA406008227 | BCKDHA | c.458T>A (p.Leu153Gln) c.392T>A (p.Leu131Gln) n.584T>A c.560T>A (p.Leu187Gln) c.265T>A c.371T>A (p.Leu124Gln) | gnomAD v4 |
19 | g.41414131T>C | CA406008230 | BCKDHA | c.458T>C (p.Leu153Pro) c.392T>C (p.Leu131Pro) n.584T>C c.560T>C (p.Leu187Pro) c.265T>C c.371T>C (p.Leu124Pro) | |
19 | g.41414131T>G | CA406008233 | BCKDHA | c.458T>G (p.Leu153Arg) c.392T>G (p.Leu131Arg) n.584T>G c.560T>G (p.Leu187Arg) c.265T>G c.371T>G (p.Leu124Arg) | |
19 | g.41414132G>A | CA507558028 | BCKDHA | c.459G>A (p.Leu153=) c.393G>A (p.Leu131=) n.585G>A c.561G>A (p.Leu187=) c.266G>A c.372G>A (p.Leu124=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.41414132G>C | CA507558030 | BCKDHA | c.459G>C (p.Leu153=) c.393G>C (p.Leu131=) n.585G>C c.561G>C (p.Leu187=) c.266G>C c.372G>C (p.Leu124=) | |
19 | g.41414132G= | CA2336455364 | BCKDHA | c.459G= (p.Leu153=) c.393G= (p.Leu131=) n.585G= c.561G= (p.Leu187=) c.266G= c.372G= (p.Leu124=) | |
19 | g.41414132G>T | CA507558032 | BCKDHA | c.459G>T (p.Leu153=) c.393G>T (p.Leu131=) n.585G>T c.561G>T (p.Leu187=) c.266G>T c.372G>T (p.Leu124=) | |
19 | g.41414133G>A | CA406008237 | BCKDHA | c.460G>A (p.Val154Met) c.394G>A (p.Val132Met) n.586G>A c.562G>A (p.Val188Met) c.267G>A c.373G>A (p.Val125Met) | |
19 | g.41414133G>C | CA406008240 | BCKDHA | c.460G>C (p.Val154Leu) c.394G>C (p.Val132Leu) n.586G>C c.562G>C (p.Val188Leu) c.267G>C c.373G>C (p.Val125Leu) | |
19 | g.41414133G>T | CA406008243 | BCKDHA | c.460G>T (p.Val154Leu) c.394G>T (p.Val132Leu) n.586G>T c.562G>T (p.Val188Leu) c.267G>T c.373G>T (p.Val125Leu) | |
19 | g.41414134T>A | CA406008254 | BCKDHA | c.461T>A (p.Val154Glu) c.395T>A (p.Val132Glu) n.587T>A c.563T>A (p.Val188Glu) c.268T>A c.374T>A (p.Val125Glu) | |
19 | g.41414134T>C | CA406008262 | BCKDHA | c.461T>C (p.Val154Ala) c.395T>C (p.Val132Ala) n.587T>C c.563T>C (p.Val188Ala) c.268T>C c.374T>C (p.Val125Ala) | |
19 | g.41414134T>G | CA406008251 | BCKDHA | c.461T>G (p.Val154Gly) c.395T>G (p.Val132Gly) n.587T>G c.563T>G (p.Val188Gly) c.268T>G c.374T>G (p.Val125Gly) | |
19 | g.41414135G>A | CA507558044 | BCKDHA | c.462G>A (p.Val154=) c.396G>A (p.Val132=) n.588G>A c.564G>A (p.Val188=) c.269G>A c.375G>A (p.Val125=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41414135G>C | CA507558047 | BCKDHA | c.462G>C (p.Val154=) c.396G>C (p.Val132=) n.588G>C c.564G>C (p.Val188=) c.269G>C c.375G>C (p.Val125=) | |
19 | g.41414135G= | CA2336455365 | BCKDHA | c.462G= (p.Val154=) c.396G= (p.Val132=) n.588G= c.564G= (p.Val188=) c.269G= c.375G= (p.Val125=) | |
19 | g.41414135G>T | CA507558049 | BCKDHA | c.462G>T (p.Val154=) c.396G>T (p.Val132=) n.588G>T c.564G>T (p.Val188=) c.269G>T c.375G>T (p.Val125=) | |
19 | g.41414136T>A | CA406008265 | BCKDHA | c.463T>A (p.Phe155Ile) c.397T>A (p.Phe133Ile) n.589T>A c.565T>A (p.Phe189Ile) c.270T>A c.376T>A (p.Phe126Ile) | |
19 | g.41414136T>C | CA406008270 | BCKDHA | c.463T>C (p.Phe155Leu) c.397T>C (p.Phe133Leu) n.589T>C c.565T>C (p.Phe189Leu) c.270T>C c.376T>C (p.Phe126Leu) | |
19 | g.41414136T>G | CA406008268 | BCKDHA | c.463T>G (p.Phe155Val) c.397T>G (p.Phe133Val) n.589T>G c.565T>G (p.Phe189Val) c.270T>G c.376T>G (p.Phe126Val) | |
19 | g.41414137T>A | CA406008276 | BCKDHA | c.464T>A (p.Phe155Tyr) c.398T>A (p.Phe133Tyr) n.590T>A c.566T>A (p.Phe189Tyr) c.271T>A c.377T>A (p.Phe126Tyr) | |
19 | g.41414137T>C | CA406008278 | BCKDHA | c.464T>C (p.Phe155Ser) c.398T>C (p.Phe133Ser) n.590T>C c.566T>C (p.Phe189Ser) c.271T>C c.377T>C (p.Phe126Ser) | |
19 | g.41414137T>G | CA406008280 | BCKDHA | c.464T>G (p.Phe155Cys) c.398T>G (p.Phe133Cys) n.590T>G c.566T>G (p.Phe189Cys) c.271T>G c.377T>G (p.Phe126Cys) | |
19 | g.41414138T>A | CA308518056 | BCKDHA | c.465T>A (p.Phe155Leu) c.399T>A (p.Phe133Leu) n.591T>A c.567T>A (p.Phe189Leu) c.272T>A c.378T>A (p.Phe126Leu) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.41414138T>C | CA507558085 | BCKDHA | c.465T>C (p.Phe155=) c.399T>C (p.Phe133=) n.591T>C c.567T>C (p.Phe189=) c.272T>C c.378T>C (p.Phe126=) | |
19 | g.41414138T>G | CA406008291 | BCKDHA | c.465T>G (p.Phe155Leu) c.399T>G (p.Phe133Leu) n.591T>G c.567T>G (p.Phe189Leu) c.272T>G c.378T>G (p.Phe126Leu) | |
19 | g.41414138T= | CA2336455366 | BCKDHA | c.465T= (p.Phe155=) c.399T= (p.Phe133=) n.591T= c.567T= (p.Phe189=) c.272T= c.378T= (p.Phe126=) | |
19 | g.41414139G>A | CA406008294 | BCKDHA | c.466G>A (p.Gly156Ser) c.400G>A (p.Gly134Ser) n.592G>A c.568G>A (p.Gly190Ser) c.273G>A c.379G>A (p.Gly127Ser) | |
19 | g.41414139G>C | CA406008293 | BCKDHA | c.466G>C (p.Gly156Arg) c.400G>C (p.Gly134Arg) n.592G>C c.568G>C (p.Gly190Arg) c.273G>C c.379G>C (p.Gly127Arg) | |
19 | g.41414139G>T | CA406008292 | BCKDHA | c.466G>T (p.Gly156Cys) c.400G>T (p.Gly134Cys) n.592G>T c.568G>T (p.Gly190Cys) c.273G>T c.379G>T (p.Gly127Cys) | |
19 | g.41414140G>A | CA406008301 | BCKDHA | c.467G>A (p.Gly156Asp) c.401G>A (p.Gly134Asp) n.593G>A c.569G>A (p.Gly190Asp) c.274G>A c.380G>A (p.Gly127Asp) | ClinVar dbSNP |
19 | g.41414140G>C | CA406008304 | BCKDHA | c.467G>C (p.Gly156Ala) c.401G>C (p.Gly134Ala) n.593G>C c.569G>C (p.Gly190Ala) c.274G>C c.380G>C (p.Gly127Ala) | |
19 | g.41414140G= | CA2336455367 | BCKDHA | c.467G= (p.Gly156=) c.401G= (p.Gly134=) n.593G= c.569G= (p.Gly190=) c.274G= c.380G= (p.Gly127=) | |
19 | g.41414140G>T | CA406008307 | BCKDHA | c.467G>T (p.Gly156Val) c.401G>T (p.Gly134Val) n.593G>T c.569G>T (p.Gly190Val) c.274G>T c.380G>T (p.Gly127Val) | |
19 | g.41414141C>A | CA507558114 | BCKDHA | c.468C>A (p.Gly156=) c.402C>A (p.Gly134=) n.594C>A c.570C>A (p.Gly190=) c.275C>A c.381C>A (p.Gly127=) | |
19 | g.41414141C>G | CA507558107 | BCKDHA | c.468C>G (p.Gly156=) c.402C>G (p.Gly134=) n.594C>G c.570C>G (p.Gly190=) c.275C>G c.381C>G (p.Gly127=) | |
19 | g.41414141C>T | CA507558110 | BCKDHA | c.468C>T (p.Gly156=) c.402C>T (p.Gly134=) n.594C>T c.570C>T (p.Gly190=) c.275C>T c.381C>T (p.Gly127=) | |
19 | g.41414142C>A | CA406008312 | BCKDHA | c.469C>A (p.Gln157Lys) c.403C>A (p.Gln135Lys) n.595C>A c.571C>A (p.Gln191Lys) c.276C>A c.382C>A (p.Gln128Lys) | |
19 | g.41414142C>G | CA406008315 | BCKDHA | c.469C>G (p.Gln157Glu) c.403C>G (p.Gln135Glu) n.595C>G c.571C>G (p.Gln191Glu) c.276C>G c.382C>G (p.Gln128Glu) | |
19 | g.41414142C>T | CA406008318 | BCKDHA | c.469C>T (p.Gln157Ter) c.403C>T (p.Gln135Ter) n.595C>T c.571C>T (p.Gln191Ter) c.276C>T c.382C>T (p.Gln128Ter) | ClinVar gnomAD v4 |
19 | g.41414143A= | CA2336455368 | BCKDHA | c.470A= (p.Gln157=) c.404A= (p.Gln135=) n.596A= c.572A= (p.Gln191=) c.277A= c.383A= (p.Gln128=) | |
19 | g.41414143A>C | CA354926 | BCKDHA | c.470A>C (p.Gln157Pro) c.404A>C (p.Gln135Pro) n.596A>C c.572A>C (p.Gln191Pro) c.277A>C c.383A>C (p.Gln128Pro) | ClinVar dbSNP |
19 | g.41414143A>G | CA406008323 | BCKDHA | c.470A>G (p.Gln157Arg) c.404A>G (p.Gln135Arg) n.596A>G c.572A>G (p.Gln191Arg) c.277A>G c.383A>G (p.Gln128Arg) | COSMIC |
19 | g.41414143A>T | CA406008327 | BCKDHA | c.470A>T (p.Gln157Leu) c.404A>T (p.Gln135Leu) n.596A>T c.572A>T (p.Gln191Leu) c.277A>T c.383A>T (p.Gln128Leu) | |
19 | g.41414144G>A | CA507558131 | BCKDHA | c.471G>A (p.Gln157=) c.405G>A (p.Gln135=) n.597G>A c.573G>A (p.Gln191=) c.278G>A c.384G>A (p.Gln128=) | ClinVar gnomAD v4 |
19 | g.41414144G>C | CA406008334 | BCKDHA | c.471G>C (p.Gln157His) c.405G>C (p.Gln135His) n.597G>C c.573G>C (p.Gln191His) c.278G>C c.384G>C (p.Gln128His) | |
19 | g.41414144G>T | CA406008338 | BCKDHA | c.471G>T (p.Gln157His) c.405G>T (p.Gln135His) n.597G>T c.573G>T (p.Gln191His) c.278G>T c.384G>T (p.Gln128His) | |
19 | g.41414145T>A | CA406008341 | BCKDHA | c.472T>A (p.Tyr158Asn) c.406T>A (p.Tyr136Asn) n.598T>A c.574T>A (p.Tyr192Asn) c.279T>A c.385T>A (p.Tyr129Asn) | |
19 | g.41414145T>C | CA406008342 | BCKDHA | c.472T>C (p.Tyr158His) c.406T>C (p.Tyr136His) n.598T>C c.574T>C (p.Tyr192His) c.279T>C c.385T>C (p.Tyr129His) | |
19 | g.41414145T>G | CA406008343 | BCKDHA | c.472T>G (p.Tyr158Asp) c.406T>G (p.Tyr136Asp) n.598T>G c.574T>G (p.Tyr192Asp) c.279T>G c.385T>G (p.Tyr129Asp) | |
19 | g.41414146A= | CA2336455369 | BCKDHA | c.473A= (p.Tyr158=) c.407A= (p.Tyr136=) n.599A= c.575A= (p.Tyr192=) c.280A= c.386A= (p.Tyr129=) | |
19 | g.41414146A>C | CA406008346 | BCKDHA | c.473A>C (p.Tyr158Ser) c.407A>C (p.Tyr136Ser) n.599A>C c.575A>C (p.Tyr192Ser) c.280A>C c.386A>C (p.Tyr129Ser) | |
19 | g.41414146A>G | CA9461151 | BCKDHA | c.473A>G (p.Tyr158Cys) c.407A>G (p.Tyr136Cys) n.599A>G c.575A>G (p.Tyr192Cys) c.280A>G c.386A>G (p.Tyr129Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41414146A>T | CA406008353 | BCKDHA | c.473A>T (p.Tyr158Phe) c.407A>T (p.Tyr136Phe) n.599A>T c.575A>T (p.Tyr192Phe) c.280A>T c.386A>T (p.Tyr129Phe) | |
19 | g.41414147C>A | CA406008360 | BCKDHA | c.474C>A (p.Tyr158Ter) c.408C>A (p.Tyr136Ter) n.600C>A c.576C>A (p.Tyr192Ter) c.281C>A c.387C>A (p.Tyr129Ter) | |
19 | g.41414147C>G | CA406008362 | BCKDHA | c.474C>G (p.Tyr158Ter) c.408C>G (p.Tyr136Ter) n.600C>G c.576C>G (p.Tyr192Ter) c.281C>G c.387C>G (p.Tyr129Ter) | |
19 | g.41414147C>T | CA507558164 | BCKDHA | c.474C>T (p.Tyr158=) c.408C>T (p.Tyr136=) n.600C>T c.576C>T (p.Tyr192=) c.281C>T c.387C>T (p.Tyr129=) | |
19 | g.41414148C>A | CA507558168 | BCKDHA | c.475C>A (p.Arg159=) c.409C>A (p.Arg137=) n.601C>A c.577C>A (p.Arg193=) c.282C>A c.388C>A (p.Arg130=) | |
19 | g.41414148C= | CA2336455370 | BCKDHA | c.475C= (p.Arg159=) c.409C= (p.Arg137=) n.601C= c.577C= (p.Arg193=) c.282C= c.388C= (p.Arg130=) | |
19 | g.41414148C>G | CA406008372 | BCKDHA | c.475C>G (p.Arg159Gly) c.409C>G (p.Arg137Gly) n.601C>G c.577C>G (p.Arg193Gly) c.282C>G c.388C>G (p.Arg130Gly) | |
19 | g.41414148C>T | CA9461152 | BCKDHA | c.475C>T (p.Arg159Trp) c.409C>T (p.Arg137Trp) n.601C>T c.577C>T (p.Arg193Trp) c.282C>T c.388C>T (p.Arg130Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41414149G>A | CA354907 | BCKDHA | c.476G>A (p.Arg159Gln) c.410G>A (p.Arg137Gln) n.602G>A c.578G>A (p.Arg193Gln) c.283G>A c.389G>A (p.Arg130Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
19 | g.41414149G>C | CA406008392 | BCKDHA | c.476G>C (p.Arg159Pro) c.410G>C (p.Arg137Pro) n.602G>C c.578G>C (p.Arg193Pro) c.283G>C c.389G>C (p.Arg130Pro) | |
19 | g.41414149G= | CA2336455371 | BCKDHA | c.476G= (p.Arg159=) c.410G= (p.Arg137=) n.602G= c.578G= (p.Arg193=) c.283G= c.389G= (p.Arg130=) | |
19 | g.41414149G>T | CA406008383 | BCKDHA | c.476G>T (p.Arg159Leu) c.410G>T (p.Arg137Leu) n.602G>T c.578G>T (p.Arg193Leu) c.283G>T c.389G>T (p.Arg130Leu) | |
19 | g.41414150G>A | CA507558175 | BCKDHA | c.477G>A (p.Arg159=) c.411G>A (p.Arg137=) n.603G>A c.579G>A (p.Arg193=) c.284G>A c.390G>A (p.Arg130=) | dbSNP gnomAD v2 |
19 | g.41414150G>C | CA507558178 | BCKDHA | c.477G>C (p.Arg159=) c.411G>C (p.Arg137=) n.603G>C c.579G>C (p.Arg193=) c.284G>C c.390G>C (p.Arg130=) | |
19 | g.41414150G= | CA2336455372 | BCKDHA | c.477G= (p.Arg159=) c.411G= (p.Arg137=) n.603G= c.579G= (p.Arg193=) c.284G= c.390G= (p.Arg130=) | |
19 | g.41414150G>T | CA507558181 | BCKDHA | c.477G>T (p.Arg159=) c.411G>T (p.Arg137=) n.603G>T c.579G>T (p.Arg193=) c.284G>T c.390G>T (p.Arg130=) | |
19 | g.41414151G>A | CA406008397 | BCKDHA | c.478G>A (p.Glu160Lys) c.412G>A (p.Glu138Lys) n.604G>A c.580G>A (p.Glu194Lys) c.285G>A c.391G>A (p.Glu131Lys) | dbSNP |
19 | g.41414151G>C | CA406008404 | BCKDHA | c.478G>C (p.Glu160Gln) c.412G>C (p.Glu138Gln) n.604G>C c.580G>C (p.Glu194Gln) c.285G>C c.391G>C (p.Glu131Gln) | |
19 | g.41414151G= | CA2336455373 | BCKDHA | c.478G= (p.Glu160=) c.412G= (p.Glu138=) n.604G= c.580G= (p.Glu194=) c.285G= c.391G= (p.Glu131=) | |
19 | g.41414151G>T | CA406008408 | BCKDHA | c.478G>T (p.Glu160Ter) c.412G>T (p.Glu138Ter) n.604G>T c.580G>T (p.Glu194Ter) c.285G>T c.391G>T (p.Glu131Ter) |